The factor VR506Q mutation causing APC resistance is highly prevalent amongst unselected outpatients with clinically suspected deep venous thrombosis

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Abstract

OBJECTIVE: Resistance to activated protein C (APC resistance), caused by a single point mutation in the factor V gene (FV:R506Q), is a major risk factor for venous thrombosis. As the significance of this mutation among unselected outpatients with deep-vein thrombosis (DVT) is not established, we have studied its prevalence among consecutive outpatients attending the emergency room due to a clinically suspected DVT.

DESIGN, SETTING AND SUBJECTS: The FV:R506Q mutation was determined in 223 consecutive Swedish outpatients with clinically suspected DVT, and in 288 healthy controls. Using phlebography, the patients were classified as DVT-positive or DVT-negative.

MAIN OUTCOME MEASURE: The prevalence of FV:R506Q mutation.

RESULTS: The prevalence of the FV:R506Q mutation was 28% (28/99) in the DVT-positive subgroup (relative risk: 3.1; 95% CI: 1.7-5.5), and 23% (28/124) in the DVT negative subgroup (relative risk: 2.0; 95% CI: 1.1-3.6), as compared to 11% (32/288) in the control group. In the DVT-positive subgroup, the FV:R506Q mutation was most common among younger patients with primary thrombosis (47%) and least common among older patients with secondary thrombosis (19%). The high prevalence of FV:R506Q mutation among DVT-negative patients was associated with a high frequency of previous venous thrombosis. Thus, 46% (13/28) of the DVT-negative FV:R506Q carriers had a history of thrombosis, compared with only 22% (21/96) of the DVT-negative patients lacking the mutation (P = 0.01).

CONCLUSION: To sum up, the FV:R506Q mutation is present in more than a quarter of Swedish DVT-positive outpatients with clinically suspected DVT, indicating that APC-resistance is a major thrombotic risk factor contributing to the high incidence of venous thrombosis in Sweden.

Original languageEnglish
Pages (from-to)379-385
Number of pages7
JournalJournal of Internal Medicine
Volume241
Issue number5
Publication statusPublished - 1997 May

Subject classification (UKÄ)

  • Medicinal Chemistry

Free keywords

  • Adult
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Factor V
  • Factor Va
  • Female
  • Heterozygote Detection
  • Humans
  • Male
  • Middle Aged
  • Outpatients
  • Phlebography
  • Point Mutation
  • Prevalence
  • Protein C
  • Thrombophlebitis
  • Journal Article
  • Research Support, Non-U.S. Gov't

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